ESPE Abstracts

Background: We want to know the clinical presentation and genetic mutation of congenital hyperinsulinism (CHI) patients in our country.Objective and hypotheses: To investigate the clinical outcomes and gene mutations related to CHI in our patients.Method: We studied the therapeutic outcomes of 95 cases of CHI and analyzed the associations between gene mutations and clinical features in 55 cases.Results: Among...

Objective: To study the clinical features and gene mutations of neonatal diabetes mellitus (NDM) in Chinese patients.Methods: Patients with clinically diagnosed NDM were subjected to genetic screening by targeted gene capture of the genes associated with glucose metabolism, and followed up.Results: Of the 23 cases of NDM studied, 16 (69.6%) were permanent neonatal diabetes mellitus (PNDM), 6 (26.1%) were transient neonatal diabetes...